Variant report

Variant	nsv8911
Chromosome Location	chr12:9895900-9897691
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:9895231..9897767-chr12:9915766..9917544,2	K562	blood:
2	chr12:9894583..9897209-chr12:9902973..9905034,4	K562	blood:
3	chr12:9884042..9890048-chr12:9890384..9897967,9	K562	blood:
4	chr12:9893977..9895808-chr12:9897315..9898952,2	K562	blood:

Variant related genes	Relation type
ENSG00000184293	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79319977	chr12:9895928-9895929	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs374685888	chr12:9895970-9895971	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs370647665	chr12:9895977-9895978	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs184454822	chr12:9895983-9895984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148201062	chr12:9895988-9895989	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs116505373	chr12:9896027-9896028	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs189343722	chr12:9896067-9896068	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141142340	chr12:9896081-9896082	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373686700	chr12:9896179-9896180	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs375221140	chr12:9896197-9896198	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs146174872	chr12:9896207-9896208	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12315213	chr12:9896249-9896250	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs6488176	chr12:9896333-9896334	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs77422141	chr12:9896339-9896340	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs77597191	chr12:9896360-9896361	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs193113859	chr12:9896384-9896385	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185527481	chr12:9896468-9896469	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs576516076	chr12:9896490-9896491	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs138132395	chr12:9896505-9896506	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190001069	chr12:9896572-9896573	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77326551	chr12:9896578-9896579	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7312624	chr12:9896639-9896640	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs374503654	chr12:9896823-9896824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs386760208	chr12:9896824-9896825	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140480899	chr12:9896825-9896826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs139335139	chr12:9896826-9896827	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76358948	chr12:9896827-9896828	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79544616	chr12:9896828-9896829	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76102007	chr12:9896829-9896830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs370240049	chr12:9896831-9896832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76664174	chr12:9896832-9896833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78845102	chr12:9896833-9896834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs78087159	chr12:9896835-9896836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376339911	chr12:9896841-9896842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs181713020	chr12:9896902-9896903	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531222960	chr12:9896906-9896907	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs572475595	chr12:9896952-9896953	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs10772102	chr12:9896953-9896954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs551192577	chr12:9896999-9897000	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34386412	chr12:9897030-9897031	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs11052817	chr12:9897058-9897059	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
42	rs372507914	chr12:9897132-9897133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs146012223	chr12:9897183-9897184	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139568859	chr12:9897197-9897198	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs149806480	chr12:9897207-9897208	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs144725962	chr12:9897237-9897238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs148525868	chr12:9897275-9897276	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374102618	chr12:9897335-9897336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs145364444	chr12:9897348-9897349	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs185834835	chr12:9897396-9897397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9890400-9897600	Weak transcription	HUVEC	blood vessel
2	chr12:9892800-9903200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:9893000-9896400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:9893000-9896800	Enhancers	Primary B cells from peripheral blood	blood
5	chr12:9893400-9910800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:9893600-9896200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr12:9894000-9896000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr12:9894200-9896200	Enhancers	Fetal Thymus	thymus
9	chr12:9894200-9896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:9894400-9896200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:9894800-9896400	Flanking Active TSS	GM12878-XiMat	blood
12	chr12:9895200-9896400	Enhancers	Duodenum Mucosa	Duodenum
13	chr12:9895400-9896000	Enhancers	Adipose Nuclei	Adipose
14	chr12:9895400-9896600	Enhancers	Primary B cells from cord blood	blood
15	chr12:9895600-9896200	Enhancers	Dnd41	blood
16	chr12:9895600-9896400	Enhancers	K562	blood
17	chr12:9895600-9896800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:9895600-9896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:9895600-9897200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:9895600-9897200	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr12:9895600-9897400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr12:9895600-9906000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr12:9895800-9896200	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:9895800-9896600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:9895800-9896600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr12:9895800-9896800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:9895800-9896800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr12:9895800-9897200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr12:9895800-9897400	Enhancers	Primary T cells from cord blood	blood
30	chr12:9895800-9897400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr12:9895800-9898000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:9895800-9903200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr12:9896200-9896400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr12:9896200-9896800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:9896200-9896800	Bivalent Enhancer	Dnd41	blood
36	chr12:9896200-9903200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr12:9896400-9896800	Enhancers	GM12878-XiMat	blood
38	chr12:9896400-9898000	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr12:9896400-9903200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr12:9896400-9911000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:9896600-9903000	Weak transcription	Primary B cells from cord blood	blood
42	chr12:9896800-9900800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:9896800-9902800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:9896800-9903000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:9896800-9903000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:9896800-9903200	Weak transcription	Primary B cells from peripheral blood	blood
47	chr12:9896800-9903200	Weak transcription	GM12878-XiMat	blood
48	chr12:9896800-9903400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:9897200-9902800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr12:9897200-9903000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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